DiGeorge/VCFS/CATCH22 (DGS) by FISH

Alphabetical Test listing

DiGeorge/VCFS/CATCH22 (DGS) by FISH-4280F

Test name:

Test number:

4280F

Excellian order number:

LAB4280F

Alternate names:

Velocardiofacial syndrome (VCFS)
Conotruncal anomaly face syndrome
CATCH 22
Chromosome 22q11.2 deletion / duplication
HIRA
TUPLE1
Congenital

Useful for:

Detects deletions and duplications involving the HIRA (TUPLE1) gene on 22q11.2 within the DiGeorge / Velocardiofacial syndrome (DGS/VCFS) critical region.

Specimen type:

Sodium heparin (Na hep) whole blood

Collection container:

Dk green Sodium heparin (Na hep), no gel

Volume:

5.0 mL

Minimum volume:

2.0 mL

Collection instructions:

If both chromosome and FISH tests are ordered, only 1 tube is needed
Immediately following collection, mix sample thoroughly by gently inverting 5 - 10 times, to prevent clotting

Transport container:

Dk green Sodium heparin (Na hep), no gel

Alternate specimen type:

Sodium heparin (Na hep) cord blood

Alternate specimen volume:

2.0 mL

Alternate collection instructions:

Immediately following collection, mix sample thoroughly by gently inverting 5 - 10 times, to prevent clotting

Transport and stability:

Ambient (strict)

Reason for rejection:

Improper label (unlabeled or mislabeled)
Wrong container (anticoagulant or solution)
Improper blood/anticoagulant ratio
Delay in transport
Improper storage
Leaking container
Heated or frozen samples

Performing lab:

AHL - Cytogenetics: X

Days set up:

Mo - Fr

TAT:

14 days

Method:

Fluorescence in situ Hybridization (FISH)

Reference ranges:

An interpretive report will be included

Clinical information:

Reciprocal duplication of this region is associated with chromosome 22q11.2 duplication syndrome.

CPT codes:

88271 x2
88273
88275
88230 - Culture (if appropriate)

Subject to medical necessity (Y/N):

Yes

LCD/NCD:

Medical necessity

Date created:

08/17/2015

Revised date:

09/01/2015